Hey hey DNA! We are celebrating our first season by being nominated for the Podcast Awards! Please help us win the title as Best Health Podcast. Just head over to podcastawards.com and click the blue button that says “Signup to Vote Now” and fill out your info. Then a CRUCIAL step is to check off the box that says “Please consider me as one of the listeners that will be randomly selected to vote on the final slate in August”. This means you, our listener, will get to vote in the final round of voting! Once you fill out this info, you will be taken directly to the nominations page. Scroll down to the “Heath” category and select All Access DNA. Then hit save nominations at the bottom of the page. You will have an email asking you to confirm your email address to try to reduce bot votes. So please confirm and that’s it! I am so thankful for everyone who has listened and checked out the All Access DNA podcast. We are a very small and independent podcast so it means the world to me that you take the time and vote for us in the People’s Choice podcast awards. Additionally, we are on a break for July so we can gear up for August with new episodes, new updates, and new experts in genetic medicine. Stay subscribed so you don’t miss the next season. And take a moment to go to podcastawards.com , fill out your info and select All Access DNA in the Health category. It just takes 30 seconds! And thank you, thank you for listening!

In this conversation, Dr. Chaya Murali discusses the importance of understanding autism, the role of genetic testing, and the impact of misinformation surrounding vaccines and autism. She emphasizes the need for families to seek reliable resources and support while navigating the complexities of neurodivergence. The conversation also highlights the emotional aspects of parenting children with autism and the importance of empathy in medical practice.   Key Takeaways: Many genetic conditions can co-occur with autism, highlighting the need for genetic evaluations. Autism is partially genetic, but environmental factors also play a role. Current genetic testing can identify a known genetic cause in about 30% of autism cases. The rise in autism diagnoses may be due to better awareness and changes in diagnostic criteria. Boys are diagnosed with autism more frequently than girls, but this may change as awareness grows. Genetic testing for autism is not predictive or diagnostic. Misinformation about vaccines continues to circulate despite evidence showing that vaccines do not cause autism   Dr. Chaya Murali is a pediatric geneticist and personal essayist in Houston, TX. Her clinical focus includes general genetics and skeletal dysplasias, and her research focus includes quality of life and lived experiences among people with rare disease and their families. She has cultivated a special interest in science communication, particularly around the genetics of autism in particular and human genetics in general. Dr. Murali's personal essays can be found at www.chayanautiyalmurali.com, and she can be found occasionally Instagramming @AkkasHouse   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: “Handing the pen to the patient: Reflective writing for children and families affected by genetic conditions” by Chaya Murali, Susan D Fernbach, Lorraine Potocki SPARK for Autism Research Autism Foundation Autistic Self Advocacy Network (ASAN) The Color of Autism Foundation   Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ.

In this conversation, Kim Zayhowski discusses the distinctions between sex and gender, emphasizing that sex is biological while gender is a social construct. She explores the complexities of chromosomes, the fluidity of gender identity, and the implications of societal norms on individual expression. The discussion also touches on the weaponization of scientific terminology in policy-making, the intersection of transphobia and misogyny, and the importance of recognizing diverse gender identities. Zayhowski advocates for active allyship and resistance against discriminatory policies, highlighting the importance of empathy and understanding in fostering a more inclusive society.   Key Takeaways: Sex and gender are not interchangeable terms. Biological sex is complex and not binary. Gender identity is shaped by culture and personal experience. Cisgender individuals have a gender identity that matches their assigned sex at birth. Scientific misconceptions can be weaponized in policy-making. Transphobia is often rooted in misogynistic beliefs. Healthcare policies must respect bodily autonomy for all individuals. Inclusive language is essential in healthcare discussions.   Kim Zayhowski is a genetic counselor, researcher, and assistant professor at Boston University Chobanian & Avedisian School of Medicine. She earned her Master’s in Human Genetics and Genetic Counseling from Stanford University School of Medicine. Her research focuses on the intersection of LGBTQIA+ care and genetics.   Please subscribe to this podcast on Apple Podcasts, Spotify, Amazon Music, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: Episode 22 with Kaitlyn Brown- What are sex trait variations and how do we support intersex individuals? Tested podcast about sex testing in elite sports from NPR Book, Sex Itself by Sarah S Richardson Bridging the gap: Time to integrate sex and gender differences into research and clinical practice for improved health outcomes by Roberta Gualtierotti     Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ.   

In this conversation, Eric Green discusses the role of the National Human Genome Research Institute (NHGRI) in leading the Human Genome Project and advancing genomic research. He shares his journey at NHGRI, highlighting the significant progress made in genomic medicine, including the All of Us Research Program, which aims to collect genomic and health data from a diverse population. Dr. Green emphasizes the importance of public sector involvement in data sharing and the challenges faced in genomic research. He also addresses the potential impact of funding cuts on future research initiatives. Dr. Green discusses the importance of public advocacy for genomics research and the need for a more equitable approach to genomic medicine. We  highlight the growing relevance of genomics in healthcare and the necessity for better public understanding and communication of genomic information.   Key Takeaways: The NHGRI was established to lead the Human Genome Project. Genomic information can improve disease diagnosis and treatment. The cost of sequencing a human genome has drastically decreased. The All of Us Research Program aims to collect genomic and health data from a million participants. Public sector involvement is crucial for data sharing in genomics. Funding cuts to NIH could severely impact genomic research initiatives. There is a risk of losing a generation of young scientists due to current policies. Healthcare professionals need to be equipped to discuss genomics with patients. The future of genomic medicine depends on continued research and public engagement.   Dr. Eric Green is a genomics researcher, Human Genome Project participant, and former Director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). He was the third NHGRI Director, having been appointed by NIH Director Dr. Francis Collins in 2009. He served as NHGRI Director from 2009 to 2025. Dr. Green was at NHGRI for over 30 years, during which he was appointed to multiple key leadership positions prior to becoming the NHGRI Director. This included serving as the NHGRI Scientific Director for 7 years, Chief of the NHGRI Genome Technology Branch for 13 years, and Founding Director of the NIH Intramural Sequencing Center for 12 years. For just over two decades, Dr. Green directed an independent research program that included integral start-to-finish roles in the Human Genome Project, groundbreaking work on mapping, sequencing, and comparing mammalian genomes, and key discoveries about the genes involved in several rare genetic diseases. Dr. Green earned his M.D. and Ph.D. degrees in 1987 from Washington University in St. Louis; coincidentally, the word “genomics” was coined in that same year. Throughout his career, he has authored and co-authored over 395 scientific publications. Dr. Green has earned multiple honors and awards, including election to the National Academy of Medicine in 2023. Following his greater than 30 years of public service as a federal employee at NHGRI and NIH, Dr. Green is now using his extensive experience in leading government-funded research programs to foster the expansion of genomics in academia, healthcare, and everyday life.   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Here are more resources related to today’s topic: National Human Genome Research Institute (NHGRI) National Institutes of Health (NIH) All of Us Research Program The Human Genome Project by Francis Collins and Leslie Fink Science impacts from recent limitation efforts from current administration: Do you remember the Human Genome Project? I’m not sure the Trump administration wants you to Trump’s proposed budget would mean ‘disastrous’ cuts to science Scie

In this conversation, Dr. Shelley Sella discusses her book “Beyond Limits: Stories of Third-Trimester Abortion Care” and her experiences in providing third trimester abortion care. She emphasizes the importance of understanding the circumstances that lead individuals to seek such care, the emotional and psychological aspects involved, and the need for compassionate support. The discussion also touches on the legal implications surrounding abortion, the safety of the procedures, and the necessity for empathy and understanding in the healthcare system. Key Takeaways: Third-trimester abortion care is often stigmatized and misunderstood. The emotional and spiritual aspects of care are integral to the process. Legal restrictions are increasing, making access to care more difficult. Support systems are crucial for patients undergoing these procedures. Abortion is far safer than continuing a pregnancy in many cases due to the high maternal mortality rate in the United States The stories of patients can help demystify and destigmatize the procedure.   Dr. Shelley Sella is a retired Board Certified Ob-Gyn and the first woman to openly provide third trimester abortion care in the United States. For 20 years Dr. Shelley Sella – an OB-GYN and the first woman to openly provide third-trimester abortion care in the United States – saw patients whose diverse backgrounds and circumstances led them to the same difficult decision: to end their pregnancies. Now, in her beautifully written and compassionate first book BEYOND LIMITS: Stories of Third-Trimester Abortion Care (June 3, 2025; Beacon Press; $27.95), Dr. Sella shares deeply intimate, profoundly human stories of this widely misunderstood experience. Combining candid memoir with expert account, Sella interweaves her patients’ stories with her own personal and professional journey (including her mentorship under Dr. George Tiller) to reveal why she dedicated her life to this work. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic:. Purchase book at bookstore.org Remembering Dr. George Tiller Los Angeles Times piece from 2015 on Dr. Susan Robinson Information on midwifery from WHO Overturning of Roe v Wade from NPR Southwestern Women’s Options Website to share stories about abortion from the National Abortion Federation Article on the high maternal mortality rate in US The Turnaway Study that describes the mental health, physical health, and socioeconomic consequences of receiving an abortion compared to carrying an unwanted pregnancy to term Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

This is a replay of our bonus episode that was released on March 28, 2025 and prior to Regeneron Pharmaceuticals purchasing 23andMe. Regeneron entered the asset purchase agreement on May 19, 2025 and states it plans to maintain the consumer genetics business. Regeneron also stated it would prioritize the privacy, security and ethical use of 23andMe's customer data. See more about the announcement here. In this episode, we explore the complexities of genetic data privacy, particularly in light of 23andMe's recent bankruptcy filing. Anya Prince discusses the implications for customer data, the legal protections in place, and the unique risks associated with genetic information. The discussion also covers the challenges of data de-identification, customer rights regarding data deletion, and the potential for data breaches. The conversation concludes with reflections on the global landscape of genetic data privacy and the importance of understanding personal values in relation to data sharing.   Key Takeaways: 23andMe's bankruptcy raises concerns about customer data. New ownership of 23andMe or its data could change how genetic data is used. Security breaches pose significant risks to genetic data. Global laws on data privacy vary significantly. Understanding personal values is crucial in data sharing decisions.   Anya Prince, Professor of Law, Joseph F. Rosenfield Fellow in Law Professor Prince’s teaching and research interests explore health and genetic privacy, with a particular focus on genetic discrimination, the health privacy implications of big data, and the ethical, legal, and social implications of genomic testing. Her research particularly explores the intersections of social and biological data by interrogating the ethical and legal implications of how genetic data can be used to predict social traits and behaviors and, conversely, how social data can be used to predict medical information, including reproductive information. Her interdisciplinary work has been published in legal, bioethics, and medical journals, including the Boston College Law Review, North Carolina Law Review, Iowa Law Review, JAMA, the American Journal of Bioethics, Journal of Law, Medicine, and Ethics, and Genetics in Medicine.   In 2022, she was awarded a four-year R01 grant from the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH) to study the ethical, legal, and social implications of sociogenomic polygenic scores. In 2023, she was awarded a Bridging Bioethics, Research & Policymaking grant from the Greenwall Foundation to develop resources regarding state-level genetic privacy legislation. In addition to these grants, Professor Prince is an investigator, consultant, or advisory board member on multiple other NIH-funded projects. She had previously been awarded a Pathway to Independence Award (K99/R00) from NHGRI to examine the use of genetic information by life, long-term care, and disability insurers.   Professor Prince is a former Visiting Assistant Professor of Law at Indiana University’s Robert H. McKinney School of Law, where she taught Employment Law and Genetics and the Law. Before joining the legal academy, she served as a Post-doctoral Research Fellow at the UNC Center for Genomics and Society (CGS) in the Department of Social Medicine at UNC-Chapel Hill School of Medicine. Professor Prince has also worked as a Skadden Fellow and Staff Attorney at the Cancer Legal Resource Center in Los Angeles, California.   You can follow her @anyaprince.bsky.social   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, a

In this conversation, we delve into the complexities surrounding intersex and transgender identities, focusing on medical ethics and the importance of patient autonomy. Our guest, Kaitlyn Brown, discusses their advocacy for the intersex community, emphasizing the importance of trauma-informed care in healthcare settings. We talk about the differences between intersex and transgender identities, the prevalence of intersex conditions, and the challenges faced by parents of intersex children. The discussion highlights the complexity of genetic definitions and the need for better understanding and support within the healthcare system. It highlights the ongoing legislative challenges that threaten the rights and healthcare access of these communities, while also emphasizing the need for advocacy and allyship. Key Takeaways: Intersex conditions encompass a wide range of biological variations. Parents need support in navigating intersex diagnoses. Genetic definitions of intersex are complex and varied. Healthcare providers must approach intersex care with sensitivity. Surgical interventions for intersex individuals are controversial and complex. Patient autonomy is crucial in medical decisions regarding gender assignment. Legislation is increasingly targeting transgender and intersex communities. Inclusive conversations about sex and gender are essential in healthcare. Cisgender individuals can use their privilege to advocate for intersex and transgender rights.   Kaitlyn Brown is a certified genetic counselor from New Zealand who is endosex and identifies as a genderqueer femme, assigned female at birth. Currently a laboratory genetic counselor specializing in cell-free DNA prenatal screening, Kaitlyn has been an active advocate for the intersex community/ people with differences of sexual development and assisted in care management as a former pediatric genetic counselor and researcher. They have been involved with passing government initiatives to legislate awareness and understanding of differences of sex development for healthcare professionals and others who care for this community. Given the history of harmful practices performed on intersex and gender diverse people, Kaitlyn uses a trauma-informed lens to educate about sex development and incorporate both sex- and gender- diverse experiences and needs. They can be found on Bluesky as geneticsbtb.bsky.social   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic, genetic counselors. InterACT- Advocates for Intersex Youth Sambia culture of Papua New Guinea and “turnim-man” Trauma Informed Care Intersex Justice Project Strategy Lab for Intersex Movements (SLIM) InterConnect Support Tested podcast about sex testing in elite sports from NPR Book, Sex Itself by Sarah S Richardson   Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

We are featuring an episode from another podcast on Gene Pool Media, DNA Today. True crime dominates the podcasting world, but what about the genetic aspects behind these cases? In this episode of DNA Today, we dive into the pivotal role of DNA in forensic science with Dr. Henry Erlich, a pioneer in DNA analysis and a key figure in developing polymerase chain reaction (PCR) technology. His work has transformed the criminal justice system, from solving cases to overturning wrongful convictions. Dr. Henry Erlich has authored over 450 publications and spent decades applying DNA analysis to criminal investigations, missing persons cases, and ancestry research. His lab performed the first DNA case in the US and, in 1988, the first DNA exoneration. Erlich was the Director of the Department of Human Genetics and Vice-President of Discovery Research for Roche Molecular Systems, Inc until 2013. He is currently a Senior Scientist at Benioff Children’s Hospital Oakland Research Institute.  After reading his book Genetic Reconstruction of the Past, I had countless questions about how PCR reshaped the justice system, its impact on exonerations, and the ethical implications of forensic DNA databases. Trigger Warning: This episode contains discussions of murder and sexual assault, which may not be suitable for young listeners.   Key Takeaways: The development of PCR technology and its revolutionary impact on forensic genetics How PCR outperformed older methods like RFLP in criminal case investigations Pennsylvania vs. Pestinikas (1986), the first criminal case using DNA analysis Key forensic DNA terms explained: inclusion, match, exclusion, and random match probability The role of DNA evidence in exonerations and wrongful convictions How forensic labs analyze DNA from multiple individuals at crime scenes The establishment of the FBI’s National DNA Index System (NDIS) and who is included The ethical concerns surrounding partial DNA matches and familial searching How public DNA databases like GEDmatch helped identify the Golden State Killer Dr. Erlich’s insights into the O.J. Simpson case and its impact on public perception of forensic DNA Resources and Links: Read Genetic Reconstruction of the Past by Dr. Henry Erlich Explore the National DNA Index System (NDIS) and CODIS The Innocence Project: Fighting wrongful convictions with DNA evidence GEDmatch and its role in forensic investigations Please subscribe to All Access DNA and DNA Today on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ.

In this episode, Kate talks to Matt Hay about is book, “Soundtrack of Silence”. Matt opens up about his experience with neurofibromatosis type 2 (NF2), a genetic condition that led to profound hearing loss- and ultimately, the creation of his memoir, “Soundtrack of Silence: Love, Loss, and a Playlist for Life”. We explore his and his wife’s journey with IVF and preimplantation genetic testing, how they faced life-changing diagnoses together, and why his wife is the true hero of his story. Matt tells us how music shaped his life and how he continues to connect with it after hearing loss, the emotional impact of NF2, and the one song that defines his life today. Matt Hay (IU MS’99, MBA’09, DrPH’26) has a long journey toward deafness and even longer journey toward learning to “hear” again with an experimental brainstem implant. Now an global in-demand keynote speaker, he first publicly shared his story on a National Public Radio (NPR) podcast titled Soundtrack of Silence. The intimate, funny and authentic peek at what it’s like to start a career, fall in love and build a life while battling a rare disease inspired actor Channing Tatum and Paramount Pictures to option the motion picture rights to Matt’s life story. Matt’s memoir Soundtrack of Silence was released in 2024 by St. Martin’s Press, an imprint of Macmillan. Publishers Weekly said Hay’s “moving memoir makes magic out of facing the music” and it immediately earned a spot as an Amazon Best Seller within the Disability Category. When Matt isn’t adding tracks to the soundtrack of his life, he passionately supports thehearing loss community as a member of the Columbia University Genetic Counseling Advisory Board and previously as a consultant to the St. Joseph Institute for the Deaf. He proudly served as a Congressional lobbyist for neurofibromatosis (NF) research funding, the genetic disorder that caused his hearing loss, and has raised money for NF research by doing endurance events, including an Ironman Triathlon and the Boston Marathon. He didn’t win either one. Matt currently serves the rare disease community as the US Director of Advocacy for a global biopharmaceutical company and is a doctoral candidate at the Indiana University School of Public Health with a focus on global health leadership. He lives in Westfield, Indiana, with his wife (whom he’s quick to point out is the hero of his story) and three children. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic: Findageneticcounselor.org to search for a genetic counselor near you But Matt’s book on Bookshop.org HERE Info on NF2 from National Organization for Rare Disorders American Society for Reproductive Medicine   Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

In this conversation, Barry Tong discusses the complexities of cancer genetics, emphasizing the intersection of genetic factors and public health. He explains how cancer arises from both genetic predispositions and environmental influences, and the importance of personalized risk assessments. The discussion also highlights the role of family history in cancer risk, and the challenges faced by patients navigating a cancer diagnosis, and the need for accessible genetic services in underserved communities.  Key Takeaways: Public health aspects are crucial in understanding cancer. Misconceptions about cancer origins can hinder patient understanding. Personalized risk assessments are essential for effective cancer prevention. Polygenic risk scores are emerging tools for assessing cancer risk. Access to genetic services is crucial for underserved populations. Barry Tong is a currently a genetic counselor supervisor at the UCSF Health Cancer Genetics and Prevention Program. Previously, Barry held several medical affairs and sales roles at Myriad Genetic Laboratories, and is a graduate of the University of Michigan Genetic Counseling and Public Health dual degree program. He is passionate about equitable access to genetics services, genetic counselor education and mentoring, and ensuring diverse and equitable entry into the genetic counseling profession. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and support our independent podcast to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic: What is a polygenic risk score? From National Human Genome Research Institute Wisdom study with the goal to change the way breast cancer is detected and risk is reduced Find A Genetic Counselor from NSGC.org Multifactorial and Complex Disorders Episode 14- Colon Cancer: What is Lynch syndrome? Episode 12- Who has surgery to prevent colon cancer? Episode 7- Are leukemia and lymphoma hereditary? Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

In this conversation, Kevin Alexander shares his personal journey living with PKU (phenylketonuria) and his passion for newborn screening advocacy. He discusses the importance of dietary therapy, the challenges of navigating insurance coverage for treatment, and the critical role of newborn screening in early detection. We discuss the recent policy changes enacted without warning by the current administration and how that impacts newborn screening practices. Kevin shares personal stories and experiences that highlight the need for advocacy and community involvement in maintaining and improving the newborn screening system.  Key Takeaways: PKU is an inborn error of metabolism that requires lifelong dietary therapy. Newborn screening is crucial for early detection of PKU to prevent brain damage. Newborn screening includes a simple blood test to evaluate for various conditions. The recommended uniform screening panel (RUSP) guides which diseases are screened. Recent policy changes threaten the inclusion of new conditions in newborn screening. The newborn screening system is crucial for public health. Kevin Alexander is an adult living with PKU. He's also a filmmaker, and since 2012 has been traveling the world as a PKU, newborn screening, and rare disease advocate. He's a volunteer for the National PKU Alliance, an advocate with the Louisiana Metabolic Disorders Coalition, and a member of the International Society of Neonatal Screening. You can find him online at: IG: @kevinalexander_pku FB: www.facebook.com/pkujournal LinkedIn: www.linkedin.com/in/kevinalexander/   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and support our independent podcast to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic: My PKU Life | A Short Film about My PKU Experience  Regaining Hope: My Journey to Rare Disease Advocacy | A Podcast Episode about the intersection of life, rare disease, and mental health Newborn Screening Is A Human Right | A blog article with Kevin’s thoughts on the termination of the Advisory Committee on Heritable Disorders in Newborns and Children The National PKU Alliance Baby’s First Test- information on newborn screening National Organization for Rare Disorders Original landing page for the Advisory Committee on Heritable Disorders in Newborns and Children The Recommended Uniform Screening Panel or RUSP Hunters Hope- non-profit for Krabbe and other leukodystrophies, as well as newborn screening starting by Jim and Jill Kelly For Katy: A Film About Newborn Screening For more information on rare disease, listen to episode 10- When is rare disease not so rare?  Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

In this conversation, Priscila discusses Parkinson's disease, its genetic and environmental factors, and the role of genetic counseling. She highlights the PD Generation study, which aims to increase awareness and understanding of Parkinson's disease, particularly in diverse communities. Priscila emphasizes the need for inclusive research and the role of language access in genetic counseling, sharing her personal motivations for advocating for better access to care and information for all individuals affected by Parkinson's disease. Key Takeaways: Parkinson's disease is a neurodegenerative disorder affecting movement. The causes of Parkinson's are multifactorial, involving genetics and environment. Genetic testing can identify variants that increase the risk of Parkinson's. Everyone has a background risk for developing Parkinson's disease. Diversity in research helps understand genetic differences across populations. Language access in genetic counseling improves patient understanding and care. Community outreach is essential for increasing participation in research. Priscila D. Hodges joined Indiana University School of Medicine in May 2020. She earned her master’s degree in Genetic Counseling from Northwestern University in 2015 and has nearly a decade of experience in bilingual prenatal genetic counseling within multicultural settings. Currently, Hodges offers bilingual genetic counseling to participants in Parkinson’s disease research, ensuring culturally sensitive care. As a passionate advocate for outreach in the Hispanic/Latine community, she plays a vital role in expanding access to genetic services and increasing research participation, striving to bridge healthcare gaps and enhance representation for underserved populations within the Parkinson’s community. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic: Findageneticcounselor.org Breaking Barriers: Advancing Genetic Counseling for Parkinson’s in Latin America by Priscila D. Hodges Parkinson's Foundation The Michael J. Fox Foundation for Parkinson’s Research World Parkinson Coalition World Parkinson Congress 2026 Interview with Dr. Ignacio Mata about the Latin American Research consortium on the Genetics of Parkinson’s Disease (LARGE-PD) Information on PD GENEration research study  Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ.

In this conversation, Naomi Wagner (she/her) discusses the intersection of ophthalmology and genetics, focusing on how genes influence eye development and diseases. She explains the complexity of inherited eye conditions, particularly retinitis pigmentosa, and the ongoing research in ocular genetics. The discussion also explores the inheritance of eye color and the importance of understanding vision impairment in society. Takeaways: Ophthalmologic or ocular genetics explores how genes affect eye health. Inherited conditions can be complex and multifactorial. Blindness and vision loss vary greatly among individuals. Eye color inheritance is influenced by multiple genes. Gene therapy shows promise for treating inherited eye conditions. Naomi Wagner is a licensed, board-certified genetic counselor specialized in ophthalmology and rare disease. She currently works as a clinical and research genetic counselor at UC San Diego Health, where she sees patients at both the Shiley Eye Institute and the Center for Bleeding and Clotting Disorders. Naomi is also owner and founder of Wagner Genomics, LLC, through which she does consulting work related to gene-based therapies and clinical trials. Naomi is an active member of several ClinGen groups, including the Retina Gene Curation Expert Panel and the ABCA4, RHO, and Maculopathy Variant Curation Expert Panels. She co-hosts the podcast DNA Dialogues, the official podcast of the Journal of Genetic Counseling. Naomi received her Master of Science from Boston University and her Bachelor of Arts from Pomona College. You can find her on socials under the handle @Naomi_CGC. Please subscribe to this podcast on Apple Podcasts, Spotify, or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic: Findageneticcounselor.org to search for a genetic counselor near you Hereditary Ocular Disease from Research to Prevent Blindness Retinitis Pigmentosa from American Academy of Ophthalmology Parts of the Eye and How We See   Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

In today’s episode, Karen Merritt shares her personal journey of advocacy for DPD deficiency awareness following her mother's tragic experience with chemotherapy. The discussion delves into the importance of genetic testing for DPYD mutations before administering certain chemotherapy drugs, the challenges in raising awareness among healthcare professionals, and ongoing advocacy efforts to include DPYD testing in national guidelines. The conversation highlights the critical need for patient education and informed decision-making in cancer treatment as well as updates in guidelines to ensure patient safety. Takeaways: Karen Merritt became an advocate after her mother's death due to DPD deficiency. DPD deficiency can lead to severe toxicity from chemotherapy drugs like 5-FU. DPYD is the gene that produces the DPD enzyme, and mutations in DPYD can lead to DPD deficiency. About 3-8% of people have a DPYD mutation. There is a push for standardizing DPD/DPYD testing in the U.S. healthcare system. Knowledge about DPYD status can prevent severe drug toxicity. Karen Merritt is a passionate and dedicated patient advocate who turned her personal tragedy into a mission to save lives. After losing her mother in 2014 due to fatal toxicity from her first infusion of 5-FU chemotherapy, a result of not being tested for DPD (dihydropyrimidine dehydrogenase) deficiency beforehand, Karen committed herself to raising awareness about the importance of pretesting for DPD deficiency before the administration of fluoropyrimidine-based chemotherapy.  Karen is a founding member of Advocates for Universal DPD/DPYD Testing (AUDT), an organization focused on promoting mandatory pretesting to ensure patient safety and prevent chemotherapy-induced toxicities & fatalities. She actively engages with healthcare professionals and institutions to emphasize the need for personalized cancer care that includes pretreatment DPD testing.   In addition to her work with AUDT, Karen serves as a Patient Representative for ClinGen PGx Working Group and the Standardizing Laboratory Practices in Pharmacogenomics (STRIPE) Collaborative Community. Her role in these groups reflects her commitment to improving clinical practices and standardizing testing protocols for better patient outcomes. Non-profit website is www.test4dpd.orgWe are also on LinkedIn and Facebook as Advocates for Universal DPD/DPYD Testing.X and instagram: test4dpd   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic: Why Don’t U.S. Guidelines Recommend DPYD Testing Before Chemotherapy? By Ellen Matloff for Forbes Advocates for Universal DPD/DPYD Testing or AUDT Additional information on DPD Deficiency from MedlinePlus Safety announcement: FDA highlights importance of DPD deficiency discussions with patients prior to capecitabine or 5FU treatment Information on Mayo Clinic Lab DPYD Full Gene Sequencing Test Dr. Anil Kapoor’s death after 5-FU Oregon Health & Science University Lawsuit Fight Colorectal Cancer Cancer Care Sequences® Listen to Episode 10-When is rare disease not so rare? to learn more about genetic discrimination and GINA Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NK

In today’s episode, we explore the complexities of genetic data privacy, particularly in light of 23andMe's recent bankruptcy filing. Anya Prince discusses the implications for customer data, the legal protections in place, and the unique risks associated with genetic information. The discussion also covers the challenges of data de-identification, customer rights regarding data deletion, and the potential for data breaches. The conversation concludes with reflections on the global landscape of genetic data privacy and the importance of understanding personal values in relation to data sharing. Key Takeaways: 23andMe's bankruptcy raises concerns about customer data. New ownership of 23andMe or its data could change how genetic data is used. Security breaches pose significant risks to genetic data. Global laws on data privacy vary significantly. Understanding personal values is crucial in data sharing decisions. Anya Prince, Professor of Law, Joseph F. Rosenfield Fellow in Law Professor Prince’s teaching and research interests explore health and genetic privacy, with a particular focus on genetic discrimination, the health privacy implications of big data, and the ethical, legal, and social implications of genomic testing. Her research particularly explores the intersections of social and biological data by interrogating the ethical and legal implications of how genetic data can be used to predict social traits and behaviors and, conversely, how social data can be used to predict medical information, including reproductive information. Her interdisciplinary work has been published in legal, bioethics, and medical journals, including the Boston College Law Review, North Carolina Law Review, Iowa Law Review, JAMA, the American Journal of Bioethics, Journal of Law, Medicine, and Ethics, and Genetics in Medicine. In 2022, she was awarded a four-year R01 grant from the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH) to study the ethical, legal, and social implications of sociogenomic polygenic scores. In 2023, she was awarded a Bridging Bioethics, Research & Policymaking grant from the Greenwall Foundation to develop resources regarding state-level genetic privacy legislation. In addition to these grants, Professor Prince is an investigator, consultant, or advisory board member on multiple other NIH-funded projects. She had previously been awarded a Pathway to Independence Award (K99/R00) from NHGRI to examine the use of genetic information by life, long-term care, and disability insurers. Professor Prince is a former Visiting Assistant Professor of Law at Indiana University’s Robert H. McKinney School of Law, where she taught Employment Law and Genetics and the Law. Before joining the legal academy, she served as a Post-doctoral Research Fellow at the UNC Center for Genomics and Society (CGS) in the Department of Social Medicine at UNC-Chapel Hill School of Medicine. Professor Prince has also worked as a Skadden Fellow and Staff Attorney at the Cancer Legal Resource Center in Los Angeles, California. You can follow her @anyaprince.bsky.social   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals.   Here are more resources related to today’s topic: Press Release from 23andMe about Voluntary Chapter 11 Initiation 23andMe Privacy Information California Attorney General Consumer Alert 23andMe HIPAA Information from US Department of Health and Human Services SNP genotyping: technologies and biomedical applications Article from Slate on GEDMatch being Acq

In this episode of All Access DNA, Dave Dubin discusses his foundation, Alive and Kick’n, which he started after being diagnosed with Lynch syndrome. He explains the importance of awareness and advocacy for Lynch syndrome, a hereditary condition that increases the risk of colon and other cancers. The discussion covers the differences between sporadic colon cancer and hereditary forms, the significance of genetic testing, and the personal journey of dealing with cancer at a young age. Dave emphasizes the need for proactive screening and the role of advocacy in improving awareness and support for those affected by Lynch syndrome. Dave shares his journey with Lynch syndrome, discussing the implications of genetic testing for himself and his family.  Key Takeaways: Dave Dubin’s foundation for Lynch syndrome is Alive and Kick’n Lynch syndrome increases the risk of multiple cancers, not just colon cancer Regular screenings are crucial for early detection of colon cancer Genetic testing can identify hereditary cancer risks Lynch syndrome is often underdiagnosed due to lack of awareness Dave Dubin is the co-founder of AliveandKick’n Lynch Syndrome Foundation. You can follow @Aliveandkickndd on Instagram and Bluesky. The views, opinions, and experiences expressed in this interview are Dave’s and not on behalf of his employer. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals.   Here are more resources related to today’s topic,. Episode 12- Who has surgery to prevent colon cancer? On familial adenomatous polyposis or FAP AliveandKick’n Website More information on Lynch syndrome from the American Cancer Society Colorectal cancer facts and statistics from Colorectal Cancer Alliance Microsatellite stability and Microsatellite instability from the Global Colon Cancer Association “New vaccine may help stop return of certain colorectal, pancreatic cancers” from Medical News Today Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

In this conversation, Ellen Matloff, a certified genetic counselor and CEO of My Gene Counsel, discusses the implications of gene ownership and patents, particularly focusing on the BRCA gene patent case against Myriad Genetics. She shares her journey from being a cancer genetic counselor to becoming an individual plaintiff in the gene patent case. We discuss the challenges faced in the legal battle and the impact of the Supreme Court's decision in 2013. The discussion highlights the importance of access to genetic testing, the intersection of law and genetics, and the implications of gene patents for research and innovation in the field. Takeaways:  There is a need for experts who have a legal understanding in genetics. The BRCA gene patent impacted testing costs and test availability. Ellen faced significant pushback and resistance for her advocacy. The ACLU and Association of Molecular Pathology (AMP) played a crucial role in bringing the case to court. Research on BRCA genetics increased after the patent was overturned. Ellen’s persistence in advocacy was driven by patient needs. Ellen T. Matloff, MS, CGC is a certified genetic counselor and the CEO of My Gene Counsel, a digital health company that provides scalable, updating genetic counseling solutions for health systems, research studies, pharma and data partners. Wondering how to keep all of your past patients with + or VUS findings up to date? mGC is your answer. Matloff founded the Yale Cancer Genetic Counseling program, served as its director and a faculty member at Yale School of Medicine for 18 years, and was an individual plaintiff in the 2013 SCOTUS BRCA gene patent case. She serves as the Forbes.com contributor on genetic counseling, genetic testing, and digital health. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic: AMP v. Myriad: The Fight to Take Back Our Genes from ACLU Direct to Confusion: Lessons Learned from Marketing BRCA Testing by Ellen Matloff and Arthur Caplan Current legislation on the Patent Eligibility Restoration Act or PERA, which could allow for gene patents to return Review on “The Genome Defense by Jorge L. Contreras” from FORCE *Update- Sam Raha will be the new CEO of Myriad Genetics starting in April 2025. Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

In this episode, Dan “Dry Dock” Shockley shares his journey with attenuated familial adenomatous polyposis (AFAP), a hereditary condition that increases the risk of colon cancer. He discusses the discovery of his condition, the importance of genetic counseling, and his proactive approach to managing his health. Dan emphasizes the importance of advocacy, education, and the need to destigmatize living with an ostomy. He talks about the role of humor and resilience in facing health challenges and highlights his commitment to educating medical professionals about rare diseases. His mantra, 'Always forge ahead with a purpose,' encapsulates his approach to life and advocacy. Takeaways: Attenuated FAP is a hereditary condition linked to colon cancer. Dan's military background has helped him adapt to his health challenges. Dan aims to educate future medical professionals about hereditary cancer. He advocates for silencing the stigma surrounding ostomy living. He encourages others to embrace their health journeys without shame. Dan is a retired Navy, Operation Desert Storm, Enduring and Iraqi Freedom veteran. He is a 13 year hereditary colon cancer syndrome WARRIOR. Dan was diagnosed with attenuated FAP, Variant c.2252.del, after his first and only colonoscopy at age of 51, and he was asymptomatic with no family history. Dan is a live-case presentation for the Stanford School of Medicine, Molecular Foundations of Medicine course and Stanford MS Program. He is also a virtual live-case presentation for the Harvard Medical School, Genomes2People Research Program and a patient advocate for the American Society of Clinical Pathology (ASCP). Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic: United Ostomy Association of America, ostomy.org NIH page on Attenuated Familial Adenomatous Polyposis Information on the APC gene from FORCE Colorectal Cancer Alliance Findageneticcounselor.org Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

In this episode of All Access DNA, we talk to Samantha Stover, a reproductive genetic counselor, about prenatal diagnostic testing. We discuss Sam’s journey into genetic counseling, and the differences between screening and diagnostic testing methods such as chorionic villus sampling (CVS) and amniocentesis. The conversation also touches on the conditions that can be detected through these tests and the benefits, risks, and limitations of genetic testing. Sam emphasizes the importance of informed consent, patient autonomy, and the emotional challenges faced by patients. She discusses the variability in insurance coverage and the necessity of understanding each patient's unique situation.  Key Takeaways Advanced maternal age is defined as 35 years and older, but the risks are not as clear-cut as once thought. Screening tests provide probabilities, while diagnostic tests aim for definitive answers. CVS and amniocentesis are the primary methods for prenatal diagnostic testing. The accuracy of CVS and amniocentesis is high, but not 100%. Both tests have a risk for miscarriage, which can be less than 1% but is dependent on the clinic. The context of ultrasound findings is crucial in interpreting genetic test results. Patients have the ultimate choice regarding prenatal diagnostic testing. Diagnostic testing serves multiple purposes beyond termination decisions. Access to genetic testing can be inequitable for some patients. The psychosocial component of genetic counseling is vital. Samantha Stover is a Reproductive Genetic Counselor in the Division of Maternal Fetal Medicine and Assistant in Obstetrics and Gynecology at Vanderbilt University Medical Center. She has a Bachelor’s of Science in Zoology from North Carolina State University and a Master’s of Science in Genetic Counseling from The University of Alabama at Birmingham School of Health Professions. She received her board certification from the American Board of Genetic Counseling in 2014. Sam has over a decade's experience providing counseling for patients across the reproductive genetics arc, and strongly believes that reproductive autonomy is a core value of the field. As a female genetic counselor with narcolepsy and cataplexy, she lives the intersection of disability rights, genetics, and reproductive autonomy. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic: Practice Bulletin on Prenatal Diagnostic Testing for Genetic Disorders from the American College of Obstetricians and Gynecologists Information on prenatal genetic diagnostic tests from the American College of Obstetricians and Gynecologists “Chromosomal Mosaicism: Origins and Clinical Implications in Preimplantation and Prenatal Diagnosis” by B Levy, E Hoffman, RC McCoy, & FR Grati, 2022. Prenatal Diagnosis. Episode 3 - Do I need prenatal genetic screening? Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

In this conversation, Susanna Smith shares her personal experience with CADASIL. The discussion explores the evolving definitions of rare diseases, the importance of accurate classification, and the implications for research and treatment. We cover how insights from rare diseases can inform our understanding of more common conditions. Susanna discusses the complexities of living as a 'previvor'—someone at risk for genetic conditions without symptoms. She explores the emotional and practical implications of genetic testing, the challenges of navigating healthcare and insurance, and the importance of patient advocacy. Susanna also shares insights from her podcast, 'Genetic Frontiers,' which delves into the multifaceted impact of genetic information on society. Key Takeaways CADASIL is an inherited genetic condition that is autosomal dominant, meaning if someone has CADASIL there is a 50% chance their child will have the condition Recent studies suggest CADASIL may be much more prevalent than previously thought. The classification of diseases as rare may not reflect their actual prevalence. Genomic studies can reveal underdiagnosed conditions like CADASIL Research on rare diseases can provide insights into common conditions. Healthcare for pre-vivors varies significantly based on the condition. Genetic discrimination remains a significant concern and protections for insurance are limited Finding a provider who listens and collaborates is vital. Susanna J. Smith, MPH, is the founder & host of Genetic Frontiers, a podcast about the promise, power, and perils of genetic information. As a journalist and researcher, she writes about the future of medicine, genetics, and technology in healthcare. She is also a previvor of a rare, genetic disease and working on a book project about negotiating the healthcare system as a previvor. Connect with her at geneticfrontiers.org or on LinkedIn @GeneticFrontiers. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic: What is CADASIL? https://www.ninds.nih.gov/health-information/disorders/cadasil NORD Genetic Alliance Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial Psychological impact of genetic testing for Huntington’s disease: an update of the literature Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ.